山东大学耳鼻喉眼学报 ›› 2024, Vol. 38 ›› Issue (2): 73-78.doi: 10.6040/j.issn.1673-3770.0.2023.030

• 论著 • 上一篇    下一篇

神经纤维瘤病Ⅰ型新致病基因突变1例并文献复习

张瑾1,亓志玲2,王少华3,赵玉凤3,马旭1,吴允刚3   

  1. 1. 济宁医学院 临床医学院, 山东 济宁 272067;
    2. 济宁医学院附属医院 重症医学科, 山东 济宁 272029;
    3. 济宁医学院附属医院 耳鼻咽喉头颈外科, 山东 济宁 272029
  • 出版日期:2024-03-20 发布日期:2024-03-29
  • 通讯作者: 吴允刚. E-mail:wyg0607@163.com

A case report of a new pathogenic gene mutation in neurofibromatosis type I and literature review

ZHANG Jin1, QI Zhiling2, WANG Shaohua3, ZHAO Yufeng3, MA Xu1, WU Yungang3   

  1. 1. School of Clinical Medicine, Jining Medical University, Jining 272067, Shandong, China2. Intensive Care Vnit, Affiliated Hospital of Jining Medical University, Jining 272029, Shandong, China3. Department of Otorhinolaryngology & Head and Neck Surgery, Affiliated Hospital of Jining Medical University, Jining 272029, Shandong, China
  • Online:2024-03-20 Published:2024-03-29

PDF (PC)

16

摘要： 目的 通过总结1例神经纤维瘤病Ⅰ型(neurofibromatosis type Ⅰ, NFⅠ)新致病基因突变患者的临床资料,提高对NFI的认识及诊疗效果。 方法 回顾性分析1例15岁NFⅠ患者,并结合相关文献进行总结。 结果 本文NFⅠ患者有双侧耳部肿物,全身散在大小不等的皮肤斑块,双侧颌面部、颈部、颏下软组织肿胀,脊柱侧弯,其父亲有类似病史。基因检测发现1个新的突变位点。患者行耳部肿物切除术后恢复良好。 结论 临床上对NFⅠ患者,应追溯NFⅠ患者其家族史,并进行详细问诊及系统体格检查,检查患者有无合并恶性肿瘤,同时不要忽视患者的心理健康。尽管NFⅠ没有治愈的方法,但对于有明显症状、影响患者生活以及恶变的病例,可建议手术治疗。对于NFⅠ患者,应定期随访复查,关心心理健康,对其家庭进行遗传咨询和教育。

关键词: Ⅰ型神经纤维瘤病, 耳郭, 基因检测, 基因突变, 青少年

Abstract: Objective To summarize the clinical data of a patient with neurofibromatosis type Ⅰ(NFⅠ)and a new pathogenic gene mutation, so as to improve the understanding of the diagnosis and treatment of NFⅠ. Methods One case of a 15-year-old patient with NFⅠ was analyzed retrospectively and the relevant literature was summarized. Results NFⅠ patient had bilateral ear swelling, scattered skin plaques of variable size throughout the body, soft tissue swelling in the bilateral maxillofacial, cervical, and subchin areas, and scoliosis, his father had a similar history. Genetic testing revealed one new mutant locus. The patient recovered well after ear mass resection. Conclusion For NFⅠ patients, it is necessary to trace their family history, conduct detailed consultation and general physical examination and check whether patients are complicated with malignant tumors. At the same time, the mental health of patients should not be ignored. Although there is no cure for NFⅠ, surgery may be recommended for cases with significant symptoms that affect the patient's life as well as for malignant changes. For NFⅠ patients, we should follow up regularly, care about their mental health, and conduct genetic counseling and education.

Key words: Neurofibromatosis type Ⅰ, Auricle, Gene detection, Gene mutation, Adolescents

中图分类号: 

  • R739.6
[1] 李玲玲, 姜彦, 陈敏, 等. 鼻中隔神经纤维瘤一例报告[J]. 山东大学耳鼻喉眼学报, 2018, 32(6): 112-113.doi: 10.6040/j.issn.1673-3770.0.2018.104 LI Lingling, JIANG Yan, CHEN Min, et al. One case report of nasal septum neurofibroma[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2018, 32(6): 112-113.doi: 10.6040/j.issn.1673-3770.0.2018.104
[2] 田敏,曹丽丽,宋承远. 神经纤维瘤病Ⅰ型:新发突变1例并文献复习[J]. 山东大学学报(医学版), 2022, 60(4): 128-132. doi: 10.6040/j.issn. 1671-7554.0.2021.1011 TIAN Min, CAO Lili, SONG Chengyuan. Neurofibromatosis type Ⅰ: a case of novel mutation and review of literature[J]. Journal of Shandong University(Health Sciences), 2022, 60(4): 128-132. doi: 10.6040/j.issn. 1671-7554.0.2021.1011
[3] Tamura R. Current understanding of neurofibromatosis type 1, 2, and schwannomatosis[J]. Int J Mol Sci, 2021, 22(11): 5850. doi:10.3390/ijms22115850
[4] 朱倍瑶, 魏澄江, 王薇, 等. 皮肤型神经纤维瘤的治疗方案及研究进展[J]. 中国修复重建外科杂志, 2022, 36(9): 1064-1071 ZHU Beiyao, WEI Chengjiang, WANG Wei, et al. Treatment and progress of cutaneous neurofibroma[J]. Chinese Journal of Reparative and Reconstructive Surgery, 2022, 36(9): 1064-1071
[5] Bayat M, Bayat A. Neurological manifestations of neurofibromatosis: a review[J].Neurol Sci, 2020, 41(10): 2685-2690. doi:10.1007/s10072-020-04400-x
[6] Karaconji T, Whist E, Jamieson RV, et al. Neurofibromatosis type 1: review and update on emerging therapies[J]. Asia Pac J Ophthalmol(Phila), 2019, 8(1): 62-72. doi:10.22608/apo.2018182
[7] 马姣, 陈钰波, 弓毅谷, 等. 神经纤维瘤1型[J]. 临床皮肤科杂志, 2022, 51(12): 714-717. doi:10.16761/j.cnki.1000-4963.2022.12.004 MA Jiao, CHEN Yubo, GONG Yigu, et al. Neurofibroma type 1[J]. Journal of Clinical Dermatology, 2022, 51(12): 714-717. doi:10.16761/j.cnki.1000-4963.2022.12.004
[8] Ferner RE, Bakker A, Elgersma Y, et al. From process to progress-2017 international conference on neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis[J]. Am J Med Genet A, 2019, 179(6): 1098-1106. doi:10.1002/ajmg.a.61112
[9] Xie R, Fu KI, Chen SM, et al. Neurofibromatosis type 1-associated multiple rectal neuroendocrine tumors: a case report and review of the literature[J]. World J Gastroenterol, 2018, 24(33): 3806-3812. doi:10.3748/wjg.v24.i33.3806
[10] Ahlawat S, Blakeley JO, Langmead S, et al. Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis[J].Skeletal Radiol, 2020, 49(2): 199-219. doi:10.1007/s00256-019-03290-1
[11] Martin E, Flucke U, Coert J, et al. Treatment of malignant peripheral nerve sheath tumors in pediatric NF1 disease[J]. Child's Nerv Syst, 2020, 36: 2453-2462. doi:10.1007/s00381-020-04687-3
[12] Bergqvist C, Servy A, Valeyrie-Allanore L, et al. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966[J]. Orphanet J Rare Dis, 2020, 15(1): 37. doi:10.1186/s13023-020-1310-3
[13] 吕丹, 李明霞, 马兰枝, 等. 累及纵膈的头颈部丛状Ⅰ型神经纤维瘤病两例[J].山东大学耳鼻喉眼学报, 2018, 32(1): 82-86. doi: 10.6040/j.issn.1673-3770.0.2017.294 LÜ Dan, LI Mingxia, MA Lanzhi, et al. Neurofibromatosis of the head and neck involving the mediastinum: two cases report[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2018, 32(1): 82-86. doi: 10.6040/j.issn.1673-3770.0.2017.294
[14] 王维, 罗聪. 1型神经纤维瘤病性脊柱侧弯的诊疗现状[J]. 医学信息, 2020, 33(9): 39-43. doi: 10.3969/j.issn.1006-1959.2020.09.013 WANG Wei, LUO Cong. The diagnosis and treatment of scoliosis of neurofibromatosis type 1[J]. Medical Information, 2020, 33(9): 39-43. doi: 10.3969/j.issn.1006-1959.2020.09.013
[15] Blakeley JO, Plotkin SR. Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis[J]. Neuro Oncol, 2016, 18(5): 624-638. doi:10.1093/neuonc/nov200
[16] Zheng Q, Xia B, Zhao X, et al. Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature[J]. BMC Pediatr. 2023, 23(1): 259. doi:10.1186/s12887-023-04077-z
[17] Mulvihill JJ, Parry DM, Sherman JL, et al. NIH conference. Neurofibromatosis 1(Recklinghausen disease)and neurofibromatosis 2(bilateral acoustic neurofibromatosis). An update[J]. Ann Intern Med. 1990, 113(1): 39-52. doi: 10.7326/0003-4819-113-1-39
[18] Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation[J]. Genet Med, 2021, 23(8): 1506-1513. doi:10.1038/s41436-021-01170-5
[19] 王建才, 刘晓雁, 胡瑾, 等. 新发1型神经纤维瘤病3例致病基因的检测[J]. 中国皮肤性病学杂志, 2022, 36(1): 27-31. doi:10.13735/j.cjdv.1001-7089.202103074 WANG Jiancai, LIU Xiaoyan, HU Jin, et al. Detection of pathogenic genes in 3 cases of new neurofibromatosis type 1[J]. The Chinese Journal of Dermatovenereology, 2022, 36(1): 27-31. doi:10.13735/j.cjdv.1001-7089.202103074
[20] Ly KI, Blakeley JO. The Diagnosis and Management of Neurofibromatosis Type 1[J]. Med Clin North Am. 2019, 103(6): 1035-1054. doi: 10.1016/j.mcna.2019.07.004
[21] 张剑, 张金明, 葛鋆, 等. 1型神经纤维瘤病的整形外科治疗决策[J]. 中华整形外科杂志, 2021(8): 840-846. doi: 10.3760/cma.j.cn114453-20210603-00244 ZHANG Jian, ZHANG Jinming, GE Yun, et al. Decision-making of orthopedic treatment in neurofibromatosis type 1[J]. Chinese Journal of Plastic Surgery, 2021(8): 840-846. doi: 10.3760/cma.j.cn114453-20210603-00244
[22] 中国Ⅰ型神经纤维瘤病多中心治疗协作组, 全国整形外科多中心研究平台. Ⅰ型神经纤维瘤病临床诊疗专家共识(2021版)[J]. 中国修复重建外科杂志, 2021, 35(11): 1384-1395. doi:10.7507/1002-1892.202108065
[23] Jakacki RI, Dombi E, Potter DM, et al. Phase I trial of pegylated interferon-alpha-2b in young patients with plexiform neurofibromas[J]. Neurology, 2011, 76(3): 265-272. doi:10.1212/WNL.0b013e318207b031
[24] Jakacki RI, Dombi E, Steinberg SM, et al. Phase II trial of pegylated interferon Alfa-2b in young patients with neurofibromatosis type 1 and unresectable plexiform neurofibromas[J]. Neuro Oncol, 2017, 19(2): 289-297. doi:10.1093/neuonc/now158
[25] Wei J, Freytag M, Schober Y, et al. Nilotinib is more potent than imatinib for treating plexiform neurofibroma in vitro and in vivo[J]. PLoS One, 2014, 9(10): e107760. doi:10.1371/journal.pone.0107760
[26] Widemann BC, Babovic-Vuksanovic D, Dombi E, et al. Phase Ⅱ trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas[J]. Pediatr Blood Cancer, 2014, 61(9): 1598-1602. doi:10.1002/pbc.25041
[27] Weiss B, Widemann BC, Wolters P, et al. Sirolimus for non-progressive NF1-associated plexiform neurofibromas: an NF clinical trials consortium phase II study[J]. Pediatr Blood Cancer, 2014, 61(6): 982-986. doi:10.1002/pbc.24873
[28] Kim A, Dombi E, Tepas K, et al. Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas[J]. Pediatr Blood Cancer, 2013, 60(3): 396-401. doi:10.1002/pbc.24281
[29] Widemann BC, Dombi E, Gillespie A, et al. Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas[J]. Neuro-oncology, 2014, 16(5): 707-718. doi:10.1093/neuonc/nou004
[30] 任捷艺, 顾熠辉, 李青峰, 等. Ⅰ型神经纤维瘤病相关丛状神经纤维瘤的药物临床试验进展[J]. 中华整形外科杂志, 2020, 36(1): 83-87. doi: 10.3760/cma.j.issn.1009-4598.2020.01.019 REN Jieyi, GU Yihui, LI Qingfeng, et al. Advances in the drug clinical trials of neurofibromatosis type Ⅰ-associated plexiform neurofibromas[J]. Chinese Journal of Plastic Surgery, 2020, 36(1): 83-87. doi: 10.3760/cma.j.issn.1009-4598.2020.01.019
[1] 马静,张敏,朱歆洁. 青少年口咽部畸胎瘤1例并文献复习[J]. 山东大学耳鼻喉眼学报, 2024, 38(2): 89-97.
[2] 刘玉红,薄琳,刘新刚,苏法仁,马启发. 带蒂颞浅筋膜瓣转移覆盖加局部植皮联合软骨移植修复耳郭再造术后软骨支架外露[J]. 山东大学耳鼻喉眼学报, 2024, 38(1): 9-12.
[3] 尉慧,张明喜,孙岳,谢汝欣,成琼,李林娜,向倩倩,吴岚,陈中山. 直系兄妹PNPLA6基因突变致Boucher-Neuhäuser综合征2例并文献复习[J]. 山东大学耳鼻喉眼学报, 2023, 37(3): 88-92.
[4] 赵爽, 赵军, 薛友余, 张娟美. 1例马凡综合征患者新发FBN1基因突变分析[J]. 山东大学耳鼻喉眼学报, 2023, 37(2): 98-103.
[5] 刘博, 肖旭平, 李云秋, 周恩, 郭仁彬. 双侧耳郭软骨骨化1例并文献复习[J]. 山东大学耳鼻喉眼学报, 2022, 36(4): 12-16.
[6] 马孝宝, 李越, 沈佳丽, 孙进, 陈向平, 杨军, 陈建勇. 1岁以内婴幼儿耳郭形态畸形矫正效果评价[J]. 山东大学耳鼻喉眼学报, 2022, 36(1): 25-30.
[7] 伊海金,杨仕明. 重视耳部外伤诊疗工作[J]. 山东大学耳鼻喉眼学报, 2020, 34(1): 1-3.
[8] 张生军,尹承江,宋丽,王仁彩,王启荣. 改良前囊壁切除联合对穿缝合法治疗耳郭假性囊肿32例[J]. 山东大学耳鼻喉眼学报, 2020, 34(1): 42-45.
[9] 徐丽娜,高艳慧,何双八. 南京地区耳聋患者常见耳聋基因突变的分析[J]. 山东大学耳鼻喉眼学报, 2019, 33(6): 45-48.
[10] 薄琳,刘新刚,刘玉红,苏法仁. 扩张皮瓣加筋膜瓣“两瓣法”在小耳畸形患者耳郭再造中的应用[J]. 山东大学耳鼻喉眼学报, 2019, 33(6): 49-51.
[11] 韩阳,杨小健,唐力行,王蓬鹏,张杰,葛文彤. 鼻腔鼻窦青少年型骨化纤维瘤六例临床分析[J]. 山东大学耳鼻喉眼学报, 2018, 32(6): 79-83.
[12] 徐新博,马小洁,闫涛,含笑,张寒冰. 新型PAX3基因突变导致Waardenburg I型综合征[J]. 山东大学耳鼻喉眼学报, 2017, 31(6): 39-41.
[13] 孙菲菲,胡松群,唐艳,张洁,吴笛,邱金红,王志霞,张鲁平. 高通量基因捕获测序技术在12个耳聋家庭中的应用[J]. 山东大学耳鼻喉眼学报, 2017, 31(5): 45-49.
[14] 陈婷婷,郭其云,刘佳琪,刘丽庭. 探讨同期放化疗对儿童青少年鼻咽癌患者生活质量的影响[J]. 山东大学耳鼻喉眼学报, 2017, 31(2): 55-58.
[15] 宋盛华, 赵伟, 蒋金琴, 赵梦莹. 不同方法治疗耳郭瘢痕疙瘩35例[J]. 山东大学耳鼻喉眼学报, 2015, 29(1): 19-23.
Viewed
Full text


Abstract

Cited
  Shared   
  Discussed   
[1] 张晗,黄一飞 . 抗角膜移植排斥的研究进展[J]. 山东大学耳鼻喉眼学报, 2006, 20(1): 84 -87 .
[2] 牛善利,柴茂文,李振秀 . 鼻内镜下鼻甲成形术治疗慢性肥厚性鼻炎60例[J]. 山东大学耳鼻喉眼学报, 2006, 20(1): 16 -18 .
[3] 孟庆国,卢永田,范献良 . 杀伤细胞免疫球蛋白样受体基因多态性与鼻咽癌的关联性[J]. 山东大学耳鼻喉眼学报, 2008, 22(3): 196 -199 .
[4] 马玉起,孔祥春 . 先天性双侧下唇窦道1例[J]. 山东大学耳鼻喉眼学报, 2008, 22(3): 199 -199 .
[5] 万俐佳,鲁海涛,姜义道,刘 辉,李 琴,佘腊枝 . 改良腭咽成形术治疗阻塞性睡眠呼吸暂停综合征41例[J]. 山东大学耳鼻喉眼学报, 2008, 22(3): 204 -205 .
[6] 于青青 ,王跃建 . 硬质耳内镜的临床应用进展[J]. 山东大学耳鼻喉眼学报, 2008, 22(3): 222 -224 .
[7] 吉晓滨,邓家德,臧林泉,王 磊,谢 军 . 豚鼠变应性鼻炎模型血清组胺的测定[J]. 山东大学耳鼻喉眼学报, 2008, 22(3): 228 -230 .
[8] 向登,卢永田,孙焕吉 . 鼻内镜下修补脑脊液鼻漏19例并文献复习[J]. 山东大学耳鼻喉眼学报, 2008, 22(3): 234 -236 .
[9] 邱恩惠,李志春,方文旭 . 嗅觉障碍的中西医治疗[J]. 山东大学耳鼻喉眼学报, 2008, 22(3): 253 -257 .
[10] 殷国华,钟 笑 . 激光减容术治疗舌扁桃体肥大的远期疗效[J]. 山东大学耳鼻喉眼学报, 2008, 22(3): 280 -282 .
网站版权所有 © 2018 《山东大学耳鼻喉眼学报》编辑部　
地址：山东省济南市山大南路27号（250100）电话：+86-0531-88366912 E-mail: ebhxb@sdu.edu.cn
本系统由北京玛格泰克科技发展有限公司设计开发